ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.7602C>T (p.Ala2534=)

gnomAD frequency: 0.00002  dbSNP: rs748309027
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000726825 SCV000703330 uncertain significance not provided 2016-11-28 criteria provided, single submitter clinical testing
GeneDx RCV000594188 SCV000722495 likely benign not specified 2017-08-28 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV001083037 SCV001009640 likely benign Duchenne muscular dystrophy 2025-01-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV002395523 SCV002674412 likely benign Cardiovascular phenotype 2022-08-22 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Natera, Inc. RCV001834874 SCV002087745 likely benign Becker muscular dystrophy; Duchenne muscular dystrophy; Cardiomyopathy; Dystrophin deficiency 2020-05-12 no assertion criteria provided clinical testing

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